V. Cormier Daire

Spectrum of epilepsy in terminal 1p36 deletion syndrome

A. Battaglia, A. Afenjar, A. Verloes, 2008, Epilepsia.

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population

R. Touraine, C. Elie, J. Auger, 2016, Hormone Research in Paediatrics.

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

S. Moutton, M. Rio, Y. Lerosey, 2023, International journal of pediatric otorhinolaryngology.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.